Varaico: Literature-Extracted Genetic Variants

Gene:APBB3
Variant:p.L450P

APBB3

41 papers

RefSeq Summary

The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (A...

Pfam Domains

WWaa 31–59UCSCWW domain
PIDaa 119–257UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

amyloid beta precursor protein binding family B member 3

HGNC Alias Symbol

FE65L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133173.3
p.L450P
c.1349T>C
Surrounding Variants
3 papers
NM_133173.3
p.R437W
c.1309C>T
1 paper
NM_133173.3
p.L435F
c.1303C>T
1 paper
NM_133173.3
p.R430C
c.1288C>T
1 paper
NM_133173.3
p.G426D
c.1277G>A
1 paper
NM_133173.3
p.R477Q
c.1430G>A
1 paper
NM_133173.3
p.Q404*
c.1210C>T
1 paper
NM_133173.3
p.C387Y
c.1160G>A
1 paper
NM_133173.3
p.Q386R
c.1157A>G
1 paper
NM_006051.4
p.D386G
c.1157A>G
1 paper
NM_133173.3
p.E350del1
c.1048_1049delCTC
1 paper
NM_133173.3
p.A325A
c.975C>T
1 paper
NM_133173.3
p.A217S
c.649G>T
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